Canonical Allele Identifier: CA413854636

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107868983C>T (hg19) ; chrX:g.108625753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108625753C>T , CM000685.2:g.108625753C>T	GRCh38
NC_000023.10:g.107868983C>T , CM000685.1:g.107868983C>T	GRCh37
NC_000023.9:g.107755639C>T	NCBI36
NG_011977.1:g.190830C>T
NG_011977.2:g.190830C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3065C>T MANE Select	ENSP00000331902.7:p.Pro1022Leu
ENST00000361603.7:c.3065C>T	ENSP00000354505.2:p.Pro1022Leu
ENST00000328300.10:c.3065C>T	ENSP00000331902.6:p.Pro1022Leu
ENST00000361603.6:c.3065C>T	ENSP00000354505.2:p.Pro1022Leu
ENST00000483338.1:n.2521C>T
ENST00000505728.1:c.298C>T
NM_000495.4:c.3065C>T	NP_000486.1:p.Pro1022Leu
NM_033380.2:c.3065C>T	NP_203699.1:p.Pro1022Leu
XM_005262070.2:c.3065C>T	XP_005262127.1:p.Pro1022Leu
XM_005262072.3:c.3065C>T	XP_005262129.1:p.Pro1022Leu
XM_006724616.2:c.3065C>T	XP_006724679.1:p.Pro1022Leu
XM_011530849.1:c.2741C>T	XP_011529151.1:p.Pro914Leu
XM_011530850.1:c.3065C>T	XP_011529152.1:p.Pro1022Leu
XM_011530851.1:c.638C>T	XP_011529153.1:p.Pro213Leu
XM_011530849.2:c.3080C>T	XP_011529151.2:p.Pro1027Leu
XM_017029259.2:c.3080C>T	XP_016884748.1:p.Pro1027Leu
XM_017029260.1:c.3080C>T	XP_016884749.1:p.Pro1027Leu
XM_017029261.1:c.3080C>T	XP_016884750.1:p.Pro1027Leu
XM_017029262.2:c.3080C>T	XP_016884751.1:p.Pro1027Leu
XM_017029263.2:c.1400C>T	XP_016884752.1:p.Pro467Leu
NM_000495.5:c.3065C>T	NP_000486.1:p.Pro1022Leu
NM_033380.3:c.3065C>T MANE Select	NP_203699.1:p.Pro1022Leu